Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abdominal protuberance
Always present (100%)HP:0001538
Abnormal spinal segmentation
Very frequent (80-99%)HP:0003422
Abnormal vertebral bodies
Very frequent (80-99%)HP:0003312
Abnormality of immune system physiology
Very frequent (80-99%)HP:0010978
Abnormality of the intervertebral disc
Very frequent (80-99%)HP:0005108
Cobb angle greater than ten degrees
Very frequent (80-99%)HP:0002650
Decreased body height
Very frequent (80-99%)HP:0004322
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Kyphoscoliosis
Very frequent (80-99%)HP:0002751
Respiratory insufficiency
Very frequent (80-99%)HP:0002093
Rib anomalies
Very frequent (80-99%)HP:0000772
Rib fusion
Very frequent (80-99%)HP:0000902
Rib segmentation abnormalities
Very frequent (80-99%)HP:0006655
Short neck
Very frequent (80-99%)HP:0000470
Shorter than typical length between neck and abdomen
Very frequent (80-99%)HP:0010306
Vertebral body fusion
Very frequent (80-99%)HP:0002948
Back pain
Frequent (30-79%)HP:0003418
Cystic hygroma of the neck
Frequent (30-79%)HP:0000476
Hemivertebra
Frequent (30-79%)HP:0002937
Hunched back
Frequent (30-79%)HP:0002808
Abnormal morphology of female internal genitalia
Occasional (5-29%)HP:0000008
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Abnormality of the ureter
Occasional (5-29%)HP:0000069
Anomalous pulmonary venous return
Occasional (5-29%)HP:0010772
Cleft of palate
Occasional (5-29%)HP:0000175
Cryptorchidism
Occasional (5-29%)HP:0000028
Decreased size of cranium
Occasional (5-29%)HP:0000252
Diaphragmatic hernia
Occasional (5-29%)HP:0000776
Dull intelligence
Occasional (5-29%)HP:0001249
Flat nasal bridge
Occasional (5-29%)HP:0005280
Related Conditions
Metabolic bone disease(parent)
Dysostosis(parent)
Congenital anomaly of rib(parent)
Hereditary disorder of musculoskeletal system(parent)
Recessive hereditary disorder (autosomal)(parent)
Carbohydrate-deficient glycoprotein syndrome(parent)
Developmental hereditary disorder(parent)
Spinal dysplasia(parent)
Congenital thoracic dysplasia(parent)
Quick Facts
- SNOMED CT
- 61367005
- UMLS CUI
- C0265343
- Fully Specified Name
- Jarcho-Levin syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.